MCID: LNG015
MIFTS: 33

Lingual-Facial-Buccal Dyskinesia

Categories: Neuronal diseases

Aliases & Classifications for Lingual-Facial-Buccal Dyskinesia

MalaCards integrated aliases for Lingual-Facial-Buccal Dyskinesia:

Name: Lingual-Facial-Buccal Dyskinesia 12 15 73
Oro-Facial Dyskinesia 12
Orofacial Dyskinesia 29
Dyskinesias 44

Classifications:



External Ids:

Disease Ontology 12 DOID:9854
ICD10 33 G24.4
ICD9CM 35 333.82
MeSH 44 D020820
SNOMED-CT 68 49386006
UMLS 73 C0152115

Summaries for Lingual-Facial-Buccal Dyskinesia

MalaCards based summary : Lingual-Facial-Buccal Dyskinesia, also known as oro-facial dyskinesia, is related to choreatic disease and choreoacanthocytosis, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is CSTB (Cystatin B), and among its related pathways/superpathways are Peptide ligand-binding receptors and Monoamine GPCRs. Affiliated tissues include lung, heart and spinal cord, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Lingual-Facial-Buccal Dyskinesia

Diseases related to Lingual-Facial-Buccal Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 317)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 31.8 KEL VPS13A
2 choreoacanthocytosis 30.0 KEL VPS13A
3 mood disorder 29.8 DRD3 HTR2C
4 primary ciliary dyskinesia 12.5
5 ciliary dyskinesia, primary, 1 12.5
6 adcy5-related dyskinesia 12.4
7 biliary dyskinesia 12.4
8 familial paroxysmal nonkinesigenic dyskinesia 12.4
9 drug induced dyskinesia 12.4
10 dyskinesia, familial, with facial myokymia 12.4
11 episodic kinesigenic dyskinesia 1 12.4
12 ciliary dyskinesia, primary, 3 12.4
13 ciliary dyskinesia, primary, 9 12.4
14 ciliary dyskinesia, primary, 7 12.3
15 ciliary dyskinesia, primary, 5 12.3
16 ciliary dyskinesia, primary, 14 12.3
17 ciliary dyskinesia, primary, 15 12.3
18 ciliary dyskinesia, primary, 16 12.3
19 ciliary dyskinesia, primary, 17 12.3
20 ciliary dyskinesia, primary, 19 12.3
21 ciliary dyskinesia, primary, 20 12.3
22 ciliary dyskinesia, primary, 35 12.3
23 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.3
24 ciliary dyskinesia, primary, 21 12.3
25 ciliary dyskinesia, primary, 25 12.3
26 ciliary dyskinesia, primary, 26 12.3
27 ciliary dyskinesia, primary, 27 12.3
28 ciliary dyskinesia, primary, 28 12.3
29 ciliary dyskinesia, primary, 2 12.3
30 ciliary dyskinesia, primary, 10 12.3
31 ciliary dyskinesia, primary, 11 12.3
32 ciliary dyskinesia, primary, 12 12.3
33 ciliary dyskinesia, primary, 13 12.3
34 ciliary dyskinesia, primary, 18 12.3
35 ciliary dyskinesia, primary, 23 12.3
36 ciliary dyskinesia, primary, 22 12.3
37 ciliary dyskinesia, primary, 29 12.3
38 ciliary dyskinesia, primary, 30 12.3
39 ciliary dyskinesia, primary, 33 12.3
40 ciliary dyskinesia, primary, 32 12.3
41 ciliary dyskinesia, primary, 34 12.3
42 ciliary dyskinesia, primary, 6 12.3
43 ciliary dyskinesia, primary, 24 12.3
44 ciliary dyskinesia, primary, 36, x-linked 12.3
45 ciliary dyskinesia, primary, 37 12.3
46 ciliary dyskinesia, primary, 38 12.3
47 paroxysmal nonkinesigenic dyskinesia 1 12.2
48 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.2
49 ciliary dyskinesia, primary, 4 12.2
50 ciliary dyskinesia, primary, 8 12.2

Graphical network of the top 20 diseases related to Lingual-Facial-Buccal Dyskinesia:



Diseases related to Lingual-Facial-Buccal Dyskinesia

Symptoms & Phenotypes for Lingual-Facial-Buccal Dyskinesia

UMLS symptoms related to Lingual-Facial-Buccal Dyskinesia:


spasmodic torticollis

MGI Mouse Phenotypes related to Lingual-Facial-Buccal Dyskinesia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CSTB DRD3 GRIN3B HTR2C KEL SLC20A2
2 nervous system MP:0003631 9.1 CSTB DRD3 HTR2C KEL SLC20A2 VPS13A

Drugs & Therapeutics for Lingual-Facial-Buccal Dyskinesia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin B6 and B12 in the Treatment of Movement Disorders Induced by Antipsychotics Not yet recruiting NCT03790345 Phase 2, Phase 3 Pyridoxine;Cobalamin;Placebo Oral Tablet
2 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380 Not Applicable
3 Effect of tDCS on Cognition, Symptoms in Chronic Schizophrenia Patients With Tardive Dyskinesia Recruiting NCT03497013 Not Applicable

Search NIH Clinical Center for Lingual-Facial-Buccal Dyskinesia

Cochrane evidence based reviews: dyskinesias

Genetic Tests for Lingual-Facial-Buccal Dyskinesia

Genetic tests related to Lingual-Facial-Buccal Dyskinesia:

# Genetic test Affiliating Genes
1 Orofacial Dyskinesia 29

Anatomical Context for Lingual-Facial-Buccal Dyskinesia

MalaCards organs/tissues related to Lingual-Facial-Buccal Dyskinesia:

41
Lung, Heart, Spinal Cord, Globus Pallidus, Subthalamic Nucleus, Caudate Nucleus

Publications for Lingual-Facial-Buccal Dyskinesia

Articles related to Lingual-Facial-Buccal Dyskinesia:

# Title Authors Year
1
An Atypical Case of Anti-NMDA Receptor Encephalitis: Predominant Parkinsonism and Persisting Micrographia without Oro-facial Dyskinesia. ( 26234239 )
2015
2
Interactions of the subthalamic nucleus and the subpallidal area in oro-facial dyskinesia: role of GABA and glutamate. ( 7675945 )
1995
3
Subregions of the caudate nucleus and their in- and output channels in oro-facial dyskinesia: a behavioural and retrograde tracing study in the cat. ( 1707740 )
1991
4
Dopamine D1 receptors in the sub-commissural part of the globus pallidus and their role in oro-facial dyskinesia in cats. ( 1839622 )
1991
5
Oro-facial dyskinesia and the sub-commissural part of the globus pallidus in the cat: role of acetylcholine and its interaction with GABA. ( 2594903 )
1989
6
The evaluation of an ultrasound detector (UD) in the measurement of oro-facial dyskinesia. ( 2885368 )
1987
7
Oro-facial dyskinesia treatment with the neuroleptic pimozide (Orap). ( 6926912 )
1982
8
Observations on the effect of levodopa on tardive lingual-facial-buccal dyskinesia. ( 5112211 )
1971

Variations for Lingual-Facial-Buccal Dyskinesia

ClinVar genetic disease variations for Lingual-Facial-Buccal Dyskinesia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
2 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297

Expression for Lingual-Facial-Buccal Dyskinesia

Search GEO for disease gene expression data for Lingual-Facial-Buccal Dyskinesia.

Pathways for Lingual-Facial-Buccal Dyskinesia

GO Terms for Lingual-Facial-Buccal Dyskinesia

Biological processes related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 9.16 DRD3 VPS13A
2 cellular calcium ion homeostasis GO:0006874 9.13 DRD3 HTR2C KEL
3 locomotory behavior GO:0007626 8.8 DRD3 HTR2C VPS13A

Molecular functions related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 8.96 DRD3 HTR2C
2 neurotransmitter receptor activity GO:0030594 8.62 GRIN3B HTR2C

Sources for Lingual-Facial-Buccal Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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